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Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry.


ABSTRACT: We describe the use of MALDI-TOF mass spectrometry in the analysis of a suspected case of gamma heavy chain disease. The patient had an abnormal serum immunofixation result where a monoclonal gamma heavy chain band was present without a corresponding light chain. Analysis by MALDI-TOF mass spectrometry revealed large peaks in the spectrum following IgG-specific purification. The m/z values of the peaks were outside the expected range for normal heavy chains or light chains. Corresponding peaks were not present in mass spectra of the kappa- or lambda-specific purifications. MALDI-TOF MS confirmed the presence of a truncated heavy chain without associated light chains. This case report demonstrates the value of mass spectrometry in interpreting challenging cases such as the identification of heavy chain disease.

SUBMITTER: Thoren KL 

PROVIDER: S-EPMC7046309 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature

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Identification of gamma heavy chain disease using MALDI-TOF mass spectrometry.

Thoren Katie L KL   Eveillard Marion M   Chan Patrick P   Doddi Sital S   Cho Sun S   Murata Kazunori K  

Clinical biochemistry 20191226


We describe the use of MALDI-TOF mass spectrometry in the analysis of a suspected case of gamma heavy chain disease. The patient had an abnormal serum immunofixation result where a monoclonal gamma heavy chain band was present without a corresponding light chain. Analysis by MALDI-TOF mass spectrometry revealed large peaks in the spectrum following IgG-specific purification. The m/z values of the peaks were outside the expected range for normal heavy chains or light chains. Corresponding peaks w  ...[more]

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